Incidental Mutation 'R6843:Srrm3'
ID 534618
Institutional Source Beutler Lab
Gene Symbol Srrm3
Ensembl Gene ENSMUSG00000039860
Gene Name serine/arginine repetitive matrix 3
Synonyms Srrm2l, 2900083I11Rik, SRm300-like
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # R6843 (G1)
Quality Score 212.009
Status Not validated
Chromosome 5
Chromosomal Location 135835744-135903626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135881135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
Ref Sequence ENSEMBL: ENSMUSP00000115695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013615] [ENSMUST00000126232] [ENSMUST00000144211]
AlphaFold Q80WV7
Predicted Effect probably benign
Transcript: ENSMUST00000013615
AA Change: V145A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: V145A

DomainStartEndE-ValueType
low complexity region 34 43 N/A INTRINSIC
cwf21 55 100 8.92e-17 SMART
low complexity region 160 186 N/A INTRINSIC
low complexity region 200 242 N/A INTRINSIC
low complexity region 253 276 N/A INTRINSIC
low complexity region 286 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126232
SMART Domains Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860

DomainStartEndE-ValueType
low complexity region 34 43 N/A INTRINSIC
cwf21 55 100 8.92e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144211
AA Change: V145A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: V145A

DomainStartEndE-ValueType
low complexity region 34 43 N/A INTRINSIC
cwf21 55 100 8.92e-17 SMART
internal_repeat_1 122 142 4.3e-6 PROSPERO
low complexity region 160 186 N/A INTRINSIC
low complexity region 200 242 N/A INTRINSIC
low complexity region 253 276 N/A INTRINSIC
low complexity region 286 317 N/A INTRINSIC
internal_repeat_1 325 345 4.3e-6 PROSPERO
low complexity region 362 442 N/A INTRINSIC
low complexity region 451 478 N/A INTRINSIC
low complexity region 493 508 N/A INTRINSIC
Pfam:SRRM_C 520 584 1.9e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign Het
Other mutations in Srrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Srrm3 APN 5 135,864,103 (GRCm39) missense probably damaging 1.00
IGL02716:Srrm3 APN 5 135,883,287 (GRCm39) splice site probably null
IGL03099:Srrm3 APN 5 135,898,152 (GRCm39) splice site probably benign
P0047:Srrm3 UTSW 5 135,881,780 (GRCm39) splice site probably null
R0688:Srrm3 UTSW 5 135,898,130 (GRCm39) utr 3 prime probably benign
R0811:Srrm3 UTSW 5 135,902,136 (GRCm39) unclassified probably benign
R0812:Srrm3 UTSW 5 135,902,136 (GRCm39) unclassified probably benign
R1083:Srrm3 UTSW 5 135,883,263 (GRCm39) missense probably damaging 0.99
R1161:Srrm3 UTSW 5 135,883,246 (GRCm39) small deletion probably benign
R1656:Srrm3 UTSW 5 135,863,892 (GRCm39) critical splice acceptor site probably null
R1694:Srrm3 UTSW 5 135,902,079 (GRCm39) unclassified probably benign
R1803:Srrm3 UTSW 5 135,885,983 (GRCm39) missense probably damaging 0.99
R2037:Srrm3 UTSW 5 135,883,231 (GRCm39) missense probably damaging 1.00
R2436:Srrm3 UTSW 5 135,864,030 (GRCm39) nonsense probably null
R3826:Srrm3 UTSW 5 135,886,068 (GRCm39) missense probably damaging 0.99
R3829:Srrm3 UTSW 5 135,886,068 (GRCm39) missense probably damaging 0.99
R4840:Srrm3 UTSW 5 135,883,449 (GRCm39) missense possibly damaging 0.81
R6526:Srrm3 UTSW 5 135,864,088 (GRCm39) missense probably damaging 1.00
R7408:Srrm3 UTSW 5 135,881,060 (GRCm39) missense probably benign 0.04
R7583:Srrm3 UTSW 5 135,881,135 (GRCm39) missense probably benign 0.01
R8096:Srrm3 UTSW 5 135,898,094 (GRCm39) missense unknown
R9294:Srrm3 UTSW 5 135,897,115 (GRCm39) missense unknown
R9605:Srrm3 UTSW 5 135,881,105 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCTACAAGCATAGTCCCCTC -3'
(R):5'- TGTGGGTCCAAGATGGGAAC -3'

Sequencing Primer
(F):5'- AAGCATAGTCCCCTCTTCCCAG -3'
(R):5'- ACCTCGCTCTAGGGCCATG -3'
Posted On 2018-09-12